Linked Data
ClinVar Variation Id:
1743482
ClinVar RCV Id:
RCV002338124
dbSNP Id:
rs1595837408
gnomAD v4:
15-73367788-G-A
MyVariant Identifiers:
chr15:g.73660129G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367788G>A , CM000677.2:g.73367788G>A | GRCh38 |
| NC_000015.9:g.73660129G>A , CM000677.1:g.73660129G>A | GRCh37 |
| NC_000015.8:g.71447182G>A | NCBI36 |
| NG_009063.1:g.6477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.483C>T MANE Select | ENSP00000261917.3:p.Pro161= | |
| ENST00000261917.3:c.483C>T | ENSP00000261917.3:p.Pro161= | |
| NM_005477.2:c.483C>T | NP_005468.1:p.Pro161= | |
| NM_005477.3:c.483C>T MANE Select | NP_005468.1:p.Pro161= |